ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) (rs1800362)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120977 SCV000168401 benign not specified 2013-10-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000205371 SCV000261883 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000120977 SCV000302520 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095332 SCV000481135 likely benign Fanconi anemia, complementation group C 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432064 SCV000511767 likely benign not provided 2016-09-20 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000575908 SCV000673292 benign Hereditary cancer-predisposing syndrome 2016-08-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000432064 SCV000695429 benign not provided 2016-04-29 criteria provided, single submitter clinical testing Variant summary: The c.416G>A variant affects a conserved nucleotide, resulting in amino acid change from Gly to Glu. 4/4 in-silico tools predict damaging outcome for this variant (SNPs&GO not captured due to low reliability index). This variant is found in 508/120796 control chromosomes (6 homozygotes) at a frequency of 0.0042054. The variant was present predominantly in the African population at a frequency of 4.5% which is about 26 times of the maximal expected frequency of a pathogenic allele (0.0017678), strongli indicating this variant is benign. In addition, publications/clinical laboratories have classified this variant as benign. Taken together, this variant was classified as benign.
Mendelics RCV000988218 SCV001137855 benign Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing
ITMI RCV000120977 SCV000085145 not provided not specified 2013-09-19 no assertion provided reference population
Leiden Open Variation Database RCV000432064 SCV001365293 uncertain significance not provided 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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